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Orphanet Journal of Rare Diseases|August 20, 2022
Optimising care and follow-up of adults with achondroplasiaSvein Fredwall, Yana Allum, Moeenaldeen AlSayed, et al.
Endocrine Connections|January 9, 2019
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patientsStefan Riedl, Friedrich-Wilhelm Röhl, Walter Bonfig, et al.
Frontiers in Pediatrics|May 22, 2019
Quality of Life of Short-Statured Children Born Small for Gestational Age or Idiopathic Growth Hormone Deficiency Within 1 Year of Growth Hormone TreatmentJulia Quitmann, Janika Bloemeke, Neuza Silva, et al.
Hormone Research in Paediatrics|December 15, 2017
A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital HyperinsulinismIvo van der Steen, Mirjam E van Albada, Klaus Mohnike, et al.
Hormone Research in Paediatrics|January 30, 2026
The CrescNet Registry Achondroplasia Module: Real-World Demographic Data and Clinical Outcomes in Untreated and Vosoritide-Treated IndividualsKlaus Mohnike, Christoph Beger, Ruth Gausche, et al.
Orphanet Journal of Rare Diseases|July 27, 2023
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosisMelita Irving, Moeenaldeen AlSayed, Paul Arundel, et al.
Nature Reviews. Endocrinology|January 5, 2025
International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasiaRavi Savarirayan, Julie Hoover-Fong, Keiichi Ozono, et al.
Early Human Development|June 17, 2010
Congenital hyperinsulinismJean-Baptiste Arnoux, Pascale de Lonlay, Maria-Joao Ribeiro, et al.
Pediatric Radiology|November 12, 2023
Deeplasia: deep learning for bone age assessment validated on skeletal dysplasiasSebastian Rassmann, Alexandra Keller, Kyra Skaf, et al.
Advances in Therapy|May 15, 2024
European Achondroplasia Forum Practical Considerations for Following Adults with AchondroplasiaSvein Fredwall, Moeenaldeen AlSayed, Tawfeg Ben-Omran, et al.
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